@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_head
{
this:
np:hasAssertion
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_assertion
;
np:hasProvenance
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_provenance
;
np:hasPublicationInfo
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_assertion
a
np:Assertion
.
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_provenance
a
np:Provenance
.
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_assertion
{
miriam-gene:1950
a
ncit:C16612
.
lld:C0751587
a
ncit:C7057
.
dgn-gda:DGNd3b6f9dfe0e3c6d293d1519ff4982426
sio:SIO_000628
miriam-gene:1950
,
lld:C0751587
;
a
sio:SIO_001121
.
}
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_provenance
{
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_assertion
dcterms:description
"[The vast majority of CADASIL mutations are missense mutations removing or inserting cysteine residues in the EGF repeats, but it is not yet clear whether these mutations primarily affect receptor trafficking, maturation, andor signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:12482954
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP367960.RA0rp7tRNOKz2KNtktn27iJ3Qs17p4iM_FYbqEOBIlp9o130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:12+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}